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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis.

Spermatogenesis is a developmental process that occurs in several phases and is regulated by a large number of gene products. An insertional transgenic mouse mutant (termed kisimo mouse) has been isolated that results in abnormal germ-cell development, showing abnormal elongated spermatids in the lumina of seminiferous tubules. We cloned the disrupted locus of kisimo and identified a novel testis-specific gene, THEG, which is specifically expressed in spermatids and was disrupted in the transgenic mouse. The yeast two-hybrid screening method revealed that THEG protein strongly interacts with chaperonin containing t-complex polypeptide-1epsilon, suggesting that THEG protein functions as a regulatory factor in protein assembly. Our findings indicate that the kisimo locus is essential for the maintenance of spermiogenesis and that a gene expression disorder may be involved in male infertility.[1]

References

  1. Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis. Yanaka, N., Kobayashi, K., Wakimoto, K., Yamada, E., Imahie, H., Imai, Y., Mori, C. J. Biol. Chem. (2000) [Pubmed]
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